PEX19 peroxisomal biogenesis factor 19

Information
Symbol
PEX19
Type
protein-coding
Description
peroxisomal biogenesis factor 19
Entrez Gene ID
5824
Genome
hg19
Position
chr1:160,246,597-160,254,923
Genome
hg38
Position
chr1:160,276,807-160,285,133
MIM
600279 OMIM
HGNC
HGNC:9713 HGNC
Ensembl
ENSG00000162735 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 18
Likely pathogenic 0 18
Benign 0 42
Likely benign 0 268
Conflicting classifications of pathogenicity 0 48
Uncertain significance 0 408
Ranking
ClinVar
0
0
72
666
2
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM D1S2223E
SYNONYM HK33
SYNONYM PBD12A
SYNONYM PMP1
SYNONYM PMPI
SYNONYM PXF
SYNONYM PXMP1
MIM 600279 OMIM
HGNC HGNC:9713 HGNC
Ensembl ENSG00000162735 Ensembl
AllianceGenome HGNC:9713
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000368072.10 hg38 chr1 160,276,807 160,285,133 8,327
ENST00000368072.10 hg19 chr1 160,246,597 160,254,923 8,327
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